Joel Naom Hirschhorn, M.D., Ph.D.
Title Concordia Professor of Pediatrics Institution Boston Children's Hospital Address Cls16028
Boston Children's Hospital
3 Blackfan Circle
Boston MA 02115
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Title
Professor of Genetics
Institution
Boston Children's Hospital
Mentoring
Available: 09/01/23, Expires: 09/01/24
Our lab uses a variety of approaches, including computational analysis, clinical research, and basic wet-lab research, to understand the genetic and biological basis of disorders related to endocrinology. Specific projects include (1) clinical research to leverage our recent genetic discoveries and artificial intelligence reading of bone age X-rays to improve height prediction and identification of children with underlying conditions that are compromising their growth; (2) computational and genomic analysis to identify causal genes and biological pathways for obesity, short stature, diabetic kidney disease, or Graves Disease; (3) analysis of metabolomic and genetic data to understand the causal connections between diet, metabolite levels, and disease outcomes; (4) helping to decipher the genetic basis of hypermobile Ehlers Danlos syndrome; (5) basic mouse and cell culture research to discover the mechanisms by which topiramate suppresses appetite; (6) functional genomics to identify causal genes and delineate mechanisms by which they regulate skeletal growth.
Research
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R01DK125273
(EBBELING, CARA B;HIRSCHHORN, JOEL N)
Aug 12, 2020 - Apr 30, 2024
Metabolomics from a Controlled Feeding Study and Large Cohorts to Identify Diet-Associated Biomarkers, Augmented by Genetics to Infer Causality for Cardiometabolic Outcomes
Role: Principal Investigator
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R01HD089521
(CHAN, YEE-MING)
Sep 10, 2016 - May 31, 2021
Exome Sequencing in Disorders of Sex Development: Impact on Patients and Families
Role: Principal Investigator
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R01DK105154
(HIRSCHHORN, JOEL N)
Dec 23, 2015 - Nov 30, 2020
Integrative genomic, epigenetic and functional studies in diabetic kidney disease
Role: Co-Principal Investigator
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R01DK081923
(HIRSCHHORN, JOEL N)
May 15, 2009 - Apr 30, 2014
Genome-Wide Association Studies of Diabetic Nephropathy
Role: Principal Investigator
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R01HL087679
(HIRSCHHORN, JOEL N)
Mar 1, 2007 - Feb 29, 2012
Genetics of cardiovascular risk factors in large founder population birth control
Role: Principal Investigator
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R01DK075787
(HIRSCHHORN, JOEL N)
Jul 1, 2006 - Jul 31, 2022
Biological Insights from Genetic Investigation of ANthropometric Traits (GIANT) Across the Allelic Spectrum
Role: Principal Investigator
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T32DK007699
(HIRSCHHORN, JOEL N)
Jul 1, 1992 - Jun 30, 2027
RESEARCH IN DEVELOPMENTAL ENDOCRINOLOGY AND METABOLISM
Role: Principal Investigator
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P41RR003655
(ELSTON, ROBERT C.)
Sep 30, 1987 - Jul 31, 2012
Human Genetic Analysis Resource
Role: Co-Principal Investigator
Bibliographic
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